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<p>Cup-like nuclear morphological alterations in acute myeloid leukemia (AML) blasts have been widely correlated with Nucleophosmin 1 (NPM1) mutations. NPM1-mutated AML has earned recognition as a distinct entity among myeloid tumors, but the absence of a thoroughly established tool for its morphological analysis remains a notable gap. Holographic tomography (HT) can offer a label-free solution for quantitatively assessing the 3D shape of the nucleus based on the volumetric variations of its refractive indices (RIs). However, traditional HT methods analyze adherent cells in a 2D layer, leading to non-isotropic reconstructions due to missing cone artifacts. Here we show for the first time that holo-tomographic flow cytometry (HTFC) achieves quantitative specificity and precise capture of the nucleus volumetric shape in AML cells in suspension. To retrieve nucleus specificity in label-free RI tomograms of flowing AML cells, we conceive and demonstrate in a real-world clinical case a novel strategy for segmenting 3D concave nuclei. This method implies that the correlation between the “phenotype” and “genotype” of nuclei is demonstrated through HTFC by creating a challenging link not yet explored between the aberrant morphological features of AML nuclei and NPM1 mutations. We conduct an ensemble-level statistical characterization of NPM1-wild type and NPM1-mutated blasts to discern their complex morphological and biophysical variances. Our findings suggest that characterizing cup-like nuclei in NPM1-related AML cells by HTFC may enhance the diagnostic approach for these tumors. Furthermore, we integrate virtual reality to provide an immersive fruition of morphological changes in AML cells within a true 3D environment.</p>

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From genotype to phenotype: decoding mutations in blasts by holo-tomographic flow cytometry

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月2日

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  • Daniele Pirone,
  • Concetta Di Natale,
  • Maria Di Summa,
  • Nicola Mosca,
  • Giusy Giugliano,
  • Michela Schiavo,
  • Daniele Florio,
  • Daniela Marasco,
  • Pier Luca Maffettone,
  • Lisa Miccio,
  • Pasquale Memmolo,
  • Pietro Ferraro

摘要

Cup-like nuclear morphological alterations in acute myeloid leukemia (AML) blasts have been widely correlated with Nucleophosmin 1 (NPM1) mutations. NPM1-mutated AML has earned recognition as a distinct entity among myeloid tumors, but the absence of a thoroughly established tool for its morphological analysis remains a notable gap. Holographic tomography (HT) can offer a label-free solution for quantitatively assessing the 3D shape of the nucleus based on the volumetric variations of its refractive indices (RIs). However, traditional HT methods analyze adherent cells in a 2D layer, leading to non-isotropic reconstructions due to missing cone artifacts. Here we show for the first time that holo-tomographic flow cytometry (HTFC) achieves quantitative specificity and precise capture of the nucleus volumetric shape in AML cells in suspension. To retrieve nucleus specificity in label-free RI tomograms of flowing AML cells, we conceive and demonstrate in a real-world clinical case a novel strategy for segmenting 3D concave nuclei. This method implies that the correlation between the “phenotype” and “genotype” of nuclei is demonstrated through HTFC by creating a challenging link not yet explored between the aberrant morphological features of AML nuclei and NPM1 mutations. We conduct an ensemble-level statistical characterization of NPM1-wild type and NPM1-mutated blasts to discern their complex morphological and biophysical variances. Our findings suggest that characterizing cup-like nuclei in NPM1-related AML cells by HTFC may enhance the diagnostic approach for these tumors. Furthermore, we integrate virtual reality to provide an immersive fruition of morphological changes in AML cells within a true 3D environment.